These genes are implicated in various neurotransmitter-related disorders, affecting the synthesis, release, transport, and degradation of neurotransmitters.

Serotonin Pathway Disorders

1. TPH2 (Tryptophan hydroxylase 2)
   • Associated with serotonin deficiency
2. SLC6A4 (Serotonin transporter)
   • Implicated in various psychiatric disorders

Dopamine Pathway Disorders

1. TH (Tyrosine hydroxylase)
   • Dopamine deficiency
2. DBH (Dopamine beta-hydroxylase)
   • Dopamine beta-hydroxylase deficiency
3. SLC6A3 (Dopamine transporter)
   • Dopamine transporter deficiency syndrome
4. MAOA (Monoamine oxidase A)
   • Monoamine oxidase A deficiency

Catecholamine Synthesis and Metabolism Disorders

1. DDC (DOPA decarboxylase)
   • Aromatic L-amino acid decarboxylase deficiency
2. GCH1 (GTP cyclohydrolase I)
   • Dopa-responsive dystonia
3. SPR (Sepiapterin reductase)
   • Sepiapterin reductase deficiency
4. TH (Tyrosine hydroxylase)
   • Tyrosine hydroxylase deficiency
5. PTPS (6-Pyruvoyl-tetrahydropterin synthase)
   • PTPS deficiency

GABAergic Pathway Disorders

1. GABRA1 (Gamma-aminobutyric acid type A receptor alpha1 subunit)
   • Epilepsy, autism
2. GABRB3 (Gamma-aminobutyric acid type A receptor beta3 subunit)
   • Epilepsy, autism
3. GABRG2 (Gamma-aminobutyric acid type A receptor gamma2 subunit)
   • Epilepsy, GEFS+
4. SLC6A1 (GABA transporter 1)
   • Myoclonic-atonic epilepsy

Glycine Pathway Disorders

1. GLRA1 (Glycine receptor alpha 1)
   • Hyperekplexia (startle disease)
2. GLRB (Glycine receptor beta)
   • Hyperekplexia
3. SLC6A5 (Glycine transporter 2)
   • Hyperekplexia

Glutamate Pathway Disorders

1. GRIN1 (Glutamate receptor, ionotropic, N-methyl D-aspartate 1)
   • Intellectual disability, epilepsy
2. GRIN2A (Glutamate receptor, ionotropic, N-methyl D-aspartate 2A)
   • Epilepsy, autism
3. GRIN2B (Glutamate receptor, ionotropic, N-methyl D-aspartate 2B)
   • Intellectual disability, epilepsy

Serine Biosynthesis and Metabolism Disorders

1. PHGDH (Phosphoglycerate dehydrogenase)
   • Neu-Laxova syndrome, serine deficiency
2. PSAT1 (Phosphoserine aminotransferase 1)
   • Phosphoserine aminotransferase deficiency
3. PSPH (Phosphoserine phosphatase)
   • Serine deficiency disorders

Purine and Pyrimidine Metabolism Disorders

1. ADA (Adenosine deaminase)
   • Severe combined immunodeficiency
2. PNP (Purine nucleoside phosphorylase)
   • Immunodeficiency, neurologic dysfunction

Miscellaneous Neurotransmitter Disorders

1. ALDH5A1 (Aldehyde dehydrogenase 5 family, member A1)
   • Succinic semialdehyde dehydrogenase deficiency
2. SLC18A2 (Vesicular monoamine transporter 2)
   • Vesicular monoamine transporter deficiency

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Cite this: Cite this: ICNApedia contributors.Genes implicated in neurotransmitter disorders. ICNApedia, The Child Neurology Knowledge Environment. 21 November 2024. Available at: https://icnapedia.org/knowledgebase/articles/genes-implicated-in-neurotransmitter-disorders Accessed  21 November 2024.